List of variants reported as likely pathogenic by Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	rs779598020	0.00007
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro)	rs774605091	0.00001
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)	rs2140840645
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)	rs1562894320
NM_001272071.2(AP1S2):c.-1+1G>A	rs1934288587
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)	rs2147508108
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)	rs1869287041
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)	rs2544234122
NM_014915.3(ANKRD26):c.-116C>T	rs1589393739
NM_021968.4(H4C11):c.106C>T (p.Arg36Trp)	rs2481041341
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg)	rs2130205866
NM_181672.3(OGT):c.307G>A (p.Gly103Arg)	rs1556046834
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs)	rs2138967445

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